If you have not already read the page http://3hypercholesterolemia.wikispaces.com/Mutation+that+Causes+the+Disorder, please do. So you know that the mutation is not sex linked, (autosomal), and lies on the 19th chromosome. If a parent has the condition, there is a 50 percent chance of passing the disease onto the children, when they would develop a heterozygous version of the disease.
If you don't know what all this means, let me explain. Heterozygous means that the genotype, which is a way to classify alleles, which are versions of a gene, has a dominant and recessive version of the allele. Dominant means that the condition shows, recessive means it does not, but there is a chance of passing the condition. So if you were writing the genotype, it would look like this, Hh, "H" Being dominant, and "h" being recessive.
For this condition, you would need two of the small "f"s to be healthy, or to get one small "f" from both parents
If you would like to calculate the chance, use this punnet square.
F=Sick
f=Healthy
F f
f Ff ff
f Ff ff
Using this Punnet Square, we can see that if our patient had a child with someone not carrying the disease, there would be a 50% chance of passing on the condition.
Risks of Passing The Condition
If you have not already read the page
http://3hypercholesterolemia.wikispaces.com/Mutation+that+Causes+the+Disorder, please do. So you know that the mutation is not sex linked, (autosomal), and lies on the 19th chromosome. If a parent has the condition, there is a 50 percent chance of passing the disease onto the children, when they would develop a heterozygous version of the disease.
If you don't know what all this means, let me explain. Heterozygous means that the genotype, which is a way to classify alleles, which are versions of a gene, has a dominant and recessive version of the allele. Dominant means that the condition shows, recessive means it does not, but there is a chance of passing the condition. So if you were writing the genotype, it would look like this, Hh, "H" Being dominant, and "h" being recessive.
For this condition, you would need two of the small "f"s to be healthy, or to get one small "f" from both parents
If you would like to calculate the chance, use this punnet square.
F=Sick
f=Healthy
F f
f Ff ff
f Ff ff
Using this Punnet Square, we can see that if our patient had a child with someone not carrying the disease, there would be a 50% chance of passing on the condition.